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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type IV
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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 malformation\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 malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type IV

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

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

3499411017 Acrocephalopolysyndactyly type IV en Synonym Active Only initial character case insensitive SNOMED CT core module

3499412012 Acrocephalopolysyndactyly type 4 en Synonym Active Entire term case insensitive SNOMED CT core module

3499413019 Goodman syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3499411017	Acrocephalopolysyndactyly type IV	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3499412012	Acrocephalopolysyndactyly type 4	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3499413019	Goodman syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module