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

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Deformity\Deformity of limb\Deformity of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Deformity\Bowing deformity of bone\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Deformity\Bowing deformity of bone\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Deformity\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Deformity\Deformity of bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Deformity\Deformity of bone\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

\Finding of limb structure\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\Deformity of limb\Deformity of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\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 of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Bone finding\Bowing deformity of bone\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Bone finding\Bowing deformity of bone\Bowing of upper limb\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital bowing of long bone\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\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital bowing of long bone\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of bone of forearm\Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

3756670017 Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Deformity of bone	false	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Congenital anomaly of upper limb	false	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Disorder of forearm	false	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Congenital deformity	false	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Bowing of upper limb	true	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Associated morphology	Bowing deformity	true	Inferred relationship	Some	2
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Finding site	Bone structure of radius and/or ulna	true	Inferred relationship	Some	2
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Congenital bowing of long bone	true	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	Congenital deformity of bone of forearm	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756669018	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3756670017	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core