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87006007: Dominant autosomal hereditary disorder, incomplete penetrance (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
144293012 Dominant autosomal hereditary disorder, incomplete penetrance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
829389018 Dominant autosomal hereditary disorder, incomplete penetrance (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4674651000241111 maladie héréditaire autosomique dominante, pénétrance incomplète fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dominant autosomal hereditary disorder, incomplete penetrance Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent Is a True Dominant autosomal hereditary disorder, incomplete penetrance Inferred relationship Some
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioural problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance. Is a True Dominant autosomal hereditary disorder, incomplete penetrance Inferred relationship Some
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Is a True Dominant autosomal hereditary disorder, incomplete penetrance Inferred relationship Some

This concept is not in any reference sets

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