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771264005: Absent radius, anogenital anomalies syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705345010 Absent radius, anogenital anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705346011 Absent radius, anogenital anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705344014 A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Absent radius, anogenital anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Absent radius, anogenital anomalies syndrome (disorder) Is a Congenital anomaly of perineum true Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a Congenital anomaly of radius false Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a X-linked hereditary disease true Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Absent radius, anogenital anomalies syndrome (disorder) Is a Dysostosis true Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Finding site Perineal structure true Inferred relationship Some 2
Absent radius, anogenital anomalies syndrome (disorder) Associated morphology Aplasia true Inferred relationship Some 3
Absent radius, anogenital anomalies syndrome (disorder) Finding site Bone structure of radius (body structure) true Inferred relationship Some 3
Absent radius, anogenital anomalies syndrome (disorder) Finding site Bone structure of extremity true Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Absent radius, anogenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Absent radius, anogenital anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Absent radius, anogenital anomalies syndrome (disorder) Is a Absence of bone in arm false Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a Congenital absence of radius false Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a Aplasia of radius true Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a Congenital dysplasia of limb (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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