1204421005: Lymphedema, posterior choanal atresia syndrome (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Nasal airway finding\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Nasopharynx finding\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.

\Digestive system finding (finding)\Finding of pharynx\Nasopharynx finding\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Finding of pharynx\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Finding of pharynx\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Finding of pharynx\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Finding of pharynx\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.

\Finding of limb structure (finding)\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Finding of limb structure (finding)\Edema of extremity (finding)\Lymphedema of limb (disorder)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Finding of limb structure (finding)\Edema of extremity (finding)\Edema of lower extremity (finding)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Finding of limb structure (finding)\Disorder of limb\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Finding of limb structure (finding)\Disorder of limb\Lymphedema of limb (disorder)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Finding of limb structure (finding)\Finding of lower limb (finding)\Edema of lower extremity (finding)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.

\Ear, nose and throat finding\Upper respiratory tract finding\Nasal airway finding\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Disease of upper respiratory system\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Disease of upper respiratory system\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Disease of upper respiratory system\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Finding of pharynx\Nasopharynx finding\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Finding of pharynx\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Finding of pharynx\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Finding of pharynx\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Upper respiratory tract finding\Finding of pharynx\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Nose finding\Nasal airway finding\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Nose finding\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Nose finding\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Ear, nose and throat finding\Nose finding\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.

\Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Oedema\Edema of extremity (finding)\Edema of lower extremity (finding)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.

\Respiratory finding\Upper respiratory tract finding\Nasal airway finding\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Finding of pharynx\Nasopharynx finding\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Finding of pharynx\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Finding of pharynx\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Finding of pharynx\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Upper respiratory tract finding\Finding of pharynx\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Disease of upper respiratory system\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Disease of upper respiratory system\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Disease of upper respiratory system\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Respiratory finding\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of foetus and/or newborn\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of upper respiratory system\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of upper respiratory system\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of upper respiratory system\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of body system\Disorder of respiratory system\Respiratory condition of fetus OR newborn\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disease of pharynx\Lesion of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disease of pharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Disease of pharynx\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disease of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of limb\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of limb\Lymphedema of limb (disorder)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of limb\Disorder of lower limb\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of nasopharynx (disorder)\Lesion of nasopharynx (disorder)\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose\Lesion of nose\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose\Disorder of nasal cavity\Lesion of nasal cavity\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Lymphoedema of lower extremity\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Primary lymphedema\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary lymphedema\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital atresia of nares\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of pharynx\Congenital atresia of pharynx\Congenital atresia of nasopharynx\Choanal atresia\A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4955468016 Lymphedema, posterior choanal atresia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4955469012 Lymphedema, posterior choanal atresia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4955470013 Lymphoedema, posterior choanal atresia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5399802013 A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399803015 A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4955468016 Lymphedema, posterior choanal atresia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4955469012 Lymphedema, posterior choanal atresia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4955470013 Lymphoedema, posterior choanal atresia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4955471012 A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4955472017 A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399802013 A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399803015 A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3435981001000115 Posteriore Choanalatresie - Lymphödem-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3435981001000115 Posteriore Choanalatresie - Lymphödem-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 genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Is a	Choanal atresia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Is a	Hereditary lymphedema	false	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Is a	Lymphoedema of lower extremity	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Finding site	Structure of choana	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Associated morphology	Congenital atresia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Finding site	Lower limb structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Associated morphology	Lymphatic edema	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Is a	Hereditary lymphedema	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Associated morphology	Atresia (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
4955468016	Lymphedema, posterior choanal atresia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955469012	Lymphedema, posterior choanal atresia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955470013	Lymphoedema, posterior choanal atresia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399802013	A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399803015	A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4955468016	Lymphedema, posterior choanal atresia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955469012	Lymphedema, posterior choanal atresia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955470013	Lymphoedema, posterior choanal atresia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4955471012	A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4955472017	A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399802013	A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399803015	A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3435981001000115	Posteriore Choanalatresie - Lymphödem-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435981001000115	Posteriore Choanalatresie - Lymphödem-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module