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65033000: Congenital anomaly of hair (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
108085010 Congenital anomaly of hair en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
500015014 Congenital malformation of hair and hair growth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
804492013 Congenital anomaly of hair (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
108085010 Congenital anomaly of hair en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
108085010 Congenital anomaly of hair en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
500015014 Congenital malformation of hair and hair growth en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
500015014 Congenital malformation of hair and hair growth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
804492013 Congenital anomaly of hair (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
804492013 Congenital anomaly of hair (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4602891000241119 anomalie congénitale des cheveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4602891000241119 anomalie congénitale des cheveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

163 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of hair Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hair Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hair Finding site Hair structure false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hair Is a Disorder of skin appendage false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hair Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of hair Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of hair Is a Disease of hair AND/OR hair follicle false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hair Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hair Is a Congenital anomaly of integument false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hair Is a Disorder of hair true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hair Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of hair Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of hair Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of hair Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of hair Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of hair Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of hair Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of hair Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital morphological disturbances of hair Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Congenital alopecia Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypotrichia Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypertrichosis (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Bayonet hair Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Persistent lanugo Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Taenzer's hair (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Specified hair anomalies NOS Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other congenital malformations of hair Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-onychial dysplasia with alopecia Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Synophrys Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Absent eyebrow Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Double eyebrow (disorder) Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Congenital distichiasis Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
érythrokératodermie, trichorrhexie noueuse et dermatite atopique Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of eyelash Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Hallermann-Streiff syndrome (disorder) Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Distichiasis Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic cilia of eyelid (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis pilaris with ichthyosis and deafness Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder) Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of eyelash Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic cilia of eyelid (disorder) Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-nail defect Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Oculocerebral hypopigmentation syndrome of Preus type (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Sparse hair with short stature and skin anomaly syndrome Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Hair defect with photosensitivity and intellectual disability syndrome (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Bamforth Lazarus syndrome Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
White forelock with malformations syndrome Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Uncombable hair syndrome Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Congenital wooly hair (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Beaded hair Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ringed hair Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Pili annulati (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Marie Unna syndrome Is a False Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, polydactyly, uncombable hair syndrome Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth defects Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal syndrome with hair-sweating defects Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 2 (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 1 (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)
Trichothiodystrophy (disorder) Is a True Congenital anomaly of hair Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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