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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
3451118011 Syndrome with characteristics of congenital scalp defects and postaxial polydactyly type A. It is an extremely rare condition. The syndrome has variable manifestations with one affected person with both congenital scalp defects and postaxial polydactyly type A, 4 people with scalp defects only and 3 people who had postaxial polydactyly only. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4001791000052114 syndrom med skalpdefekt och postaxial polydaktyli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 utvecklingsabnormitet 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

This concept is not in any reference sets

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