733425005: Acrocephalopolysyndactyly type IV (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\...

\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV

\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV

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

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV

\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Genetic disease\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type IV
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocephalopolysyndactyly type IV
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrocephalopolysyndactyly type IV
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type IV
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type IV
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3499410016 Acrocephalopolysyndactyly type IV (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3499411017 Acrocephalopolysyndactyly type IV en Synonym Active Initial character case insensitive SNOMED CT core

3499412012 Acrocephalopolysyndactyly type 4 en Synonym Active Case insensitive SNOMED CT core

3499413019 Goodman syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalopolysyndactyly type IV	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly type IV	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly type IV	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly type IV	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly type IV	Finding site	Digit structure	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly type IV	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly type IV	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	1
Acrocephalopolysyndactyly type IV	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Acrocephalopolysyndactyly type IV	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Acrocephalopolysyndactyly type IV	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly type IV	Finding site	Digit structure	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly type IV	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly type IV	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Acrocephalopolysyndactyly type IV	Is a	Acrocephalopolysyndactyly	true	Inferred relationship	Some
Acrocephalopolysyndactyly type IV	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Acrocephalopolysyndactyly type IV	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acrocephalopolysyndactyly type IV	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Acrocephalopolysyndactyly type IV	Occurrence	Congenital	true	Inferred relationship	Some	3
Acrocephalopolysyndactyly type IV	Occurrence	Congenital	false	Inferred relationship	Some	4
Acrocephalopolysyndactyly type IV	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	3
Acrocephalopolysyndactyly type IV	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Acrocephalopolysyndactyly type IV	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	4
Acrocephalopolysyndactyly type IV	Finding site	Digit structure	false	Inferred relationship	Some	4

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
3499410016	Acrocephalopolysyndactyly type IV (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3499411017	Acrocephalopolysyndactyly type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499412012	Acrocephalopolysyndactyly type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3499413019	Goodman syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core