782913006: Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Deformity (finding)\Deformation of bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Deformity (finding)\Deformation of bone\Bowing deformity of bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Deformity (finding)\Deformation of bone\Bowing deformity of bone\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Deformity of limb (finding)\Deformity of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Deformity of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Bone finding\Deformation of bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Bone finding\Deformation of bone\Bowing deformity of bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Bone finding\Deformation of bone\Bowing deformity of bone\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital bowing of long bone (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm (disorder)\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756669018	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756670017	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756671018	A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756669018	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756670017	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756671018	A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3435071001000117	Spondyloepimetaphysäre Dysplasie-gebogene Unterarme-Gesichtsdysmorphien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435071001000117	Spondyloepimetaphysäre Dysplasie-gebogene Unterarme-Gesichtsdysmorphien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start