724208006: Keutel syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Viscus structure finding (finding)\Lung finding\Disease of lung (disorder)\...

\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Lung finding\Disease of lung (disorder)\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Lung finding\Disease of lung (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Pulmonary artery finding\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Pulmonary artery finding\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Pulmonary artery finding\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disease of lung (disorder)\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disease of lung (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\General finding of soft tissue\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Finding of artery\Pulmonary artery finding\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Finding of artery\Pulmonary artery finding\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Finding of artery\Pulmonary artery finding\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Finding of artery\Pulmonary artery finding\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Finding of artery\Pulmonary artery finding\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Finding of artery\Pulmonary artery finding\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Respiratory finding\Lower respiratory tract finding\Lung finding\Disease of lung (disorder)\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Respiratory finding\Lower respiratory tract finding\Lung finding\Disease of lung (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Respiratory finding\Lower respiratory tract finding\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Respiratory finding\Disorder of respiratory system\Disease of lower respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Respiratory finding\Disorder of respiratory system\Disease of lower respiratory system\Disease of lung (disorder)\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Respiratory finding\Disorder of respiratory system\Disease of lower respiratory system\Disease of lung (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Respiratory finding\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Musculoskeletal finding (finding)\Cartilage finding (finding)\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Musculoskeletal finding (finding)\Cartilage finding (finding)\Cartilage disorder\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of foetus and/or newborn\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Degenerative disorder\Calcinosis\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of lower respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of lower respiratory system\Disease of lung (disorder)\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of lower respiratory system\Disease of lung (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of blood vessels of thorax (disorder)\Disease of pulmonary circulation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Stenosis of artery (disorder)\Pulmonary artery stenosis (disorder)\Peripheral pulmonary artery stenosis\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of lower respiratory system (disorder)\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Congenital anomaly of great vessel\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital anomaly of pulmonary artery\Congenital stenosis of pulmonary artery (disorder)\Congenital peripheral pulmonary artery stenosis\A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3432364018 Keutel syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3432365017 Keutel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3432366016 Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403277017 A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403278010 A rare multiple congenital anomalies/dysmorphic syndrome characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3432364018 Keutel syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3432365017 Keutel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3432366016 Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3432367013 Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterised by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3777436019 Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterized by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403277017 A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403278010 A rare multiple congenital anomalies/dysmorphic syndrome characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3447681001000118 Keutel-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

941041000172117 syndrome de Keutel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

952151000172113 syndrome de sténose pulmonaire, brachytéléphalangie, calcification du cartilage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

941041000172117 syndrome de Keutel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

952151000172113 syndrome de sténose pulmonaire, brachytéléphalangie, calcification du cartilage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3447681001000118 Keutel-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Chondrocalcinosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Congenital peripheral pulmonary artery stenosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	Pathologic calcification	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	Congenital stenosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Finding site	Structure of pulmonary artery within lung (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	Pathologic calcification	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Finding site	Cartilage structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Congenital anomaly of cartilage	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	Congenital stenosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Finding site	Structure of pulmonary artery within lung (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	Stenosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3432364018	Keutel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432365017	Keutel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432366016	Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403277017	A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403278010	A rare multiple congenital anomalies/dysmorphic syndrome characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432364018	Keutel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432365017	Keutel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432366016	Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432367013	Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterised by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777436019	Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterized by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403277017	A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403278010	A rare multiple congenital anomalies/dysmorphic syndrome characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447681001000118	Keutel-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
941041000172117	syndrome de Keutel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952151000172113	syndrome de sténose pulmonaire, brachytéléphalangie, calcification du cartilage	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
941041000172117	syndrome de Keutel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952151000172113	syndrome de sténose pulmonaire, brachytéléphalangie, calcification du cartilage	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447681001000118	Keutel-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module