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721147000: Hidrotic ectodermal dysplasia Halal type (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3323703010 Hidrotic ectodermal dysplasia Halal type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323704016 Hidrotic ectodermal dysplasia Halal type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323705015 Ectodermal dysplasia with skin anomaly and intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323706019 Halal Setton Wang syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402619014 Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402620015 Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterised by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. 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
Hidrotic ectodermal dysplasia Halal type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type (disorder) Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Hidrotic ectodermal dysplasia Halal type (disorder) Occurrence Congenital false Inferred relationship Some 4
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 4
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Hidrotic ectodermal dysplasia Halal type (disorder) Occurrence Congenital false Inferred relationship Some 5
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 6
Hidrotic ectodermal dysplasia Halal type (disorder) Occurrence Congenital false Inferred relationship Some 6
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site Ectoderm structure false Inferred relationship Some 6
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 7
Hidrotic ectodermal dysplasia Halal type (disorder) Occurrence Congenital false Inferred relationship Some 7
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site Skin structure false Inferred relationship Some 5
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site Nail structure false Inferred relationship Some 7
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site Skin structure false Inferred relationship Some 4
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Halal type (disorder) Occurrence Congenital true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type (disorder) Occurrence Congenital true Inferred relationship Some 3
Hidrotic ectodermal dysplasia Halal type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Halal type (disorder) Occurrence Congenital true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Halal type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site Nail unit structure true Inferred relationship Some 3
Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type (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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