773278003: Familial osteodysplasia Anderson type (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Finding of face\...

\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Familial osteodysplasia Anderson type

\Disorder of face\Lesion of face\Familial osteodysplasia Anderson type
\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Familial osteodysplasia Anderson type

\Skull finding\Disorder of skull\Congenital anomaly of skull\Familial osteodysplasia Anderson type

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disorder of head\Disorder of face\Lesion of face\Familial osteodysplasia Anderson type
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Familial osteodysplasia Anderson type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Familial osteodysplasia Anderson type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Disorder of head\Disorder of face\Lesion of face\Familial osteodysplasia Anderson type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Familial disease\Familial osteodysplasia Anderson type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Familial osteodysplasia Anderson type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Familial osteodysplasia Anderson type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Familial osteodysplasia Anderson type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Familial osteodysplasia Anderson type

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3722864013 Familial osteodysplasia Anderson type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3722865014 Familial osteodysplasia Anderson type en Synonym Active Initial character case insensitive SNOMED CT core

3722866010 A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. en Definition Active Case sensitive SNOMED CT core

3722867018 A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricaemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial osteodysplasia Anderson type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Familial osteodysplasia Anderson type	Is a	Osteodysplasia	false	Inferred relationship	Some
Familial osteodysplasia Anderson type	Is a	Familial disease	true	Inferred relationship	Some
Familial osteodysplasia Anderson type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Familial osteodysplasia Anderson type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Familial osteodysplasia Anderson type	Is a	Lesion of face	true	Inferred relationship	Some
Familial osteodysplasia Anderson type	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Familial osteodysplasia Anderson type	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
Familial osteodysplasia Anderson type	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial osteodysplasia Anderson type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Familial osteodysplasia Anderson type	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Familial osteodysplasia Anderson type	Finding site	Bone structure of face	false	Inferred relationship	Some	1
Familial osteodysplasia Anderson type	Occurrence	Congenital	true	Inferred relationship	Some	2
Familial osteodysplasia Anderson type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Familial osteodysplasia Anderson type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Familial osteodysplasia Anderson type	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Familial osteodysplasia Anderson type	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Familial osteodysplasia Anderson type	Finding site	Bone structure of face	true	Inferred relationship	Some	2

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
3722864013	Familial osteodysplasia Anderson type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3722865014	Familial osteodysplasia Anderson type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3722866010	A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	en	Definition	Active	Case sensitive	SNOMED CT core
3722867018	A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricaemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	en	Definition	Active	Case sensitive	SNOMED CT core