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70410008: Acrocephalosyndactyly type V (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
116968013 Pfeiffer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
116969017 Pfeiffer-type acrocephalosyndactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2816529011 Acrocephalosyndactyly type V (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2816530018 Acrocephalosyndactyly type V en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3497293010 Acrocephalosyndactyly type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acrocephalosyndactyly type V (disorder) Is a Syndactyly false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Multisystem disorder O-P false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Craniosynostosis syndrome false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Ectodermal dysplasia with nail defect false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 4
Acrocephalosyndactyly type V (disorder) Finding site Digit structure false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Occurrence Congenital true Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology Abnormally short and broad growth false Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Finding site Skin structure false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology Dysplasia false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Finding site Musculoskeletal structure of limb false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital webbing false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology Developmental anomaly false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Is a Multisystem disorder false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Syndactyly (disorder) false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Associated morphology Dysplasia false Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Associated morphology Deformity false Inferred relationship Some 6
Acrocephalosyndactyly type V (disorder) Finding site Skin structure false Inferred relationship Some 5
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Associated morphology Dysplasia false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 4
Acrocephalosyndactyly type V (disorder) Is a Congenital anomaly of nail false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 5
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 4
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 4
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 4
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 4
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Finding site Nail structure false Inferred relationship Some 6
Acrocephalosyndactyly type V (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Finding site Joint structure of suture of skull false Inferred relationship Some 4
Acrocephalosyndactyly type V (disorder) Is a Congenital malformation of thumb (disorder) false Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a Acrocephalosyndactyly true Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital malformation false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Finding site Hand structure false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Finding site Hand structure false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital malformation false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Finding site Thumb structure false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Finding site Thumb structure false Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Occurrence Congenital true Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Finding site Thumb structure false Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Occurrence Congenital false Inferred relationship Some 3
Acrocephalosyndactyly type V (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Finding site Digit structure true Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Associated morphology Premature fusion true Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Pfeiffer syndrome type 1 (disorder) Is a True Acrocephalosyndactyly type V (disorder) Inferred relationship Some
Pfeiffer syndrome type 2 (disorder) Is a True Acrocephalosyndactyly type V (disorder) Inferred relationship Some
Pfeiffer syndrome type 3 (disorder) Is a True Acrocephalosyndactyly type V (disorder) Inferred relationship Some

This concept is not in any reference sets

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