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726629006: Scalp defect postaxial polydactyly syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3451116010 Scalp defect postaxial polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451117018 Scalp defect postaxial polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403569015 A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403570019 A rare syndrome with limb malformations as a major feature characterised by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985. 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
Scalp defect postaxial polydactyly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Scalp defect postaxial polydactyly syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Scalp defect postaxial polydactyly syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
Scalp defect postaxial polydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Scalp defect postaxial polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Scalp defect postaxial polydactyly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Scalp defect postaxial polydactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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