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239079007: Inherited cutaneous hyperpigmentation (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
358290010 Inherited cutaneous hyperpigmentation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
628047011 Inherited cutaneous hyperpigmentation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited cutaneous hyperpigmentation Is a Genodermatosis true Inferred relationship Some
Inherited cutaneous hyperpigmentation Is a Hyperpigmentation of skin true Inferred relationship Some
Inherited cutaneous hyperpigmentation Occurrence Congenital false Inferred relationship Some
Inherited cutaneous hyperpigmentation Finding site Skin structure true Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Finding site Structure of skin region false Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Associated morphology Hyperpigmentation false Inferred relationship Some 2
Inherited cutaneous hyperpigmentation Associated morphology Congenital anomaly false Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 2
Inherited cutaneous hyperpigmentation Is a Site-specific disorder of skin false Inferred relationship Some
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 2
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 2
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 2
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 2
Inherited cutaneous hyperpigmentation Occurrence Congenital false Inferred relationship Some 3
Inherited cutaneous hyperpigmentation Associated morphology Developmental anomaly false Inferred relationship Some 3
Inherited cutaneous hyperpigmentation Finding site Skin structure false Inferred relationship Some 3
Inherited cutaneous hyperpigmentation Occurrence Congenital true Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Is a Congenital pigmentary skin anomalies true Inferred relationship Some
Inherited cutaneous hyperpigmentation Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Associated morphology Hyperpigmentation true Inferred relationship Some 1
Inherited cutaneous hyperpigmentation Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Inherited cutaneous hyperpigmentation Is a Developmental hereditary disorder true Inferred relationship Some
Inherited cutaneous hyperpigmentation Is a Hereditary disorder of the integument true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Normal variation in cutaneous pigmentation Is a False Inherited cutaneous hyperpigmentation Inferred relationship Some
Dyschromatosis universalis Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
Naegeli-Franceschetti-Jadassohn syndrome Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
Symmetrical dyschromatosis of extremities (disorder) Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
Zosteriform reticulate hyperpigmentation Is a False Inherited cutaneous hyperpigmentation Inferred relationship Some
Dermatopathia pigmentosa reticularis Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
Acromelanosis (disorder) Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. Is a False Inherited cutaneous hyperpigmentation Inferred relationship Some
Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
Hereditary benign acanthosis nigricans Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
Hereditary benign acanthosis nigricans with insulin resistance Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some
A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent. Is a True Inherited cutaneous hyperpigmentation Inferred relationship Some

Reference Sets

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