733425005: Acrocephalopolysyndactyly type IV (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Sep 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Goodman-Syndrom	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Goodman-Syndrom	Is a	Acrocephalopolysyndactyly (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Goodman-Syndrom	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Goodman-Syndrom	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Goodman-Syndrom	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Goodman-Syndrom	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Goodman-Syndrom	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Goodman-Syndrom	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Goodman-Syndrom	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Goodman-Syndrom	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Goodman-Syndrom	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Goodman-Syndrom	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Goodman-Syndrom	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Goodman-Syndrom	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Goodman-Syndrom	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Goodman-Syndrom	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Goodman-Syndrom	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Goodman-Syndrom	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Goodman-Syndrom	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Goodman-Syndrom	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Goodman-Syndrom	Associated morphology	Supernumerary structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Goodman-Syndrom	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Goodman-Syndrom	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Goodman-Syndrom	Associated morphology	Premature fusion (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Goodman-Syndrom	Associated morphology	Abnormally fused structure (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3499410016	Acrocephalopolysyndactyly type IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499411017	Acrocephalopolysyndactyly type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499412012	Acrocephalopolysyndactyly type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499413019	Goodman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499994018	Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499410016	Acrocephalopolysyndactyly type IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499411017	Acrocephalopolysyndactyly type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499412012	Acrocephalopolysyndactyly type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499413019	Goodman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499994018	Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442951001000116	Goodman-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6037041000241113	ACPS (acrocéphalopolysyndactylie) de type IV	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6037051000241111	acrocéphalopolysyndactylie de type IV	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6037061000241114	syndrome de Goodman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6037041000241113	ACPS (acrocéphalopolysyndactylie) de type IV	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6037051000241111	acrocéphalopolysyndactylie de type IV	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6037061000241114	syndrome de Goodman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442951001000116	Goodman-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module