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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
4602891000241119 anomalie congénitale des cheveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

165 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 true Inferred relationship Some
Congenital anomaly of hair Occurrence Congenital false Inferred relationship Some
Congenital anomaly of hair Finding site Hair structure false Inferred relationship Some
Congenital anomaly of hair Is a Disorder of skin appendage false Inferred relationship Some
Congenital anomaly of hair Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of hair Finding site Hair structure (body structure) false Inferred relationship Some 1
Congenital anomaly of hair Is a Disorder of hair AND/OR hair follicle false Inferred relationship Some
Congenital anomaly of hair Finding site Skin structure false Inferred relationship Some
Congenital anomaly of hair Is a Congenital anomaly of integument false Inferred relationship Some
Congenital anomaly of hair Is a Disorder of hair true Inferred relationship Some
Congenital anomaly of hair Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of hair Finding site Hair structure (body structure) true Inferred relationship Some 1
Congenital anomaly of hair Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of hair Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of hair Finding site Hair structure (body structure) false Inferred relationship Some 2
Congenital anomaly of hair Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of hair Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of hair Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital morphological disturbances of hair Is a False Congenital anomaly of hair Inferred relationship Some
Congenital alopecia Is a True Congenital anomaly of hair Inferred relationship Some
Congenital hypotrichia Is a True Congenital anomaly of hair Inferred relationship Some
Congenital hypertrichosis Is a True Congenital anomaly of hair Inferred relationship Some
Bayonet hair Is a True Congenital anomaly of hair Inferred relationship Some
Persistent lanugo Is a True Congenital anomaly of hair Inferred relationship Some
Taenzer's hair Is a True Congenital anomaly of hair Inferred relationship Some
Specified hair anomalies NOS Is a False Congenital anomaly of hair Inferred relationship Some
[X]Other congenital malformations of hair Is a False Congenital anomaly of hair Inferred relationship Some
Odonto-onychial dysplasia with alopecia Is a False Congenital anomaly of hair Inferred relationship Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Is a False Congenital anomaly of hair Inferred relationship Some
Synophrys Is a False Congenital anomaly of hair Inferred relationship Some
Absent eyebrow Is a False Congenital anomaly of hair Inferred relationship Some
Double eyebrow Is a False Congenital anomaly of hair Inferred relationship Some
Congenital distichiasis Is a False Congenital anomaly of hair Inferred relationship Some
érythrokératodermie, trichorrhexie noueuse et dermatite atopique Is a False Congenital anomaly of hair Inferred relationship Some
Menkes kinky-hair syndrome Is a False Congenital anomaly of hair Inferred relationship Some
Congenital absence of eyelash Is a False Congenital anomaly of hair Inferred relationship Some
Hallermann-Streiff syndrome Is a False Congenital anomaly of hair Inferred relationship Some
Distichiasis Is a False Congenital anomaly of hair Inferred relationship Some
Ectopic cilia of eyelid Is a True Congenital anomaly of hair Inferred relationship Some
Keratosis pilaris with ichthyosis and deafness Is a False Congenital anomaly of hair Inferred relationship Some
Genetic defect of hair shaft (disorder) Is a False Congenital anomaly of hair Inferred relationship Some
Congenital absence of eyelash Is a False Congenital anomaly of hair Inferred relationship Some
Ectopic cilia of eyelid Is a False Congenital anomaly of hair Inferred relationship Some
Ectodermal dysplasia with hair-nail defect Is a True Congenital anomaly of hair Inferred relationship Some
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. Is a True Congenital anomaly of hair Inferred relationship Some
Sparse hair with short stature and skin anomaly syndrome Is a False Congenital anomaly of hair Inferred relationship Some
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 Some
Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. Is a True Congenital anomaly of hair Inferred relationship Some
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Is a True Congenital anomaly of hair Inferred relationship Some
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. Is a True Congenital anomaly of hair Inferred relationship Some
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 Some
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. Is a True Congenital anomaly of hair Inferred relationship Some
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 Some
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Is a False Congenital anomaly of hair Inferred relationship Some
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Is a False Congenital anomaly of hair Inferred relationship Some
Uncombable hair syndrome Is a True Congenital anomaly of hair Inferred relationship Some
Congenital woolly hair Is a True Congenital anomaly of hair Inferred relationship Some
Beaded hair Is a True Congenital anomaly of hair Inferred relationship Some
Congenital ringed hair Is a True Congenital anomaly of hair Inferred relationship Some
Pili annulati Is a True Congenital anomaly of hair Inferred relationship Some
Marie Unna syndrome Is a False Congenital anomaly of hair Inferred relationship Some
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. Is a True Congenital anomaly of hair Inferred relationship Some
Pili torti Is a True Congenital anomaly of hair 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 Congenital anomaly of hair Inferred relationship Some
Ectodermal dysplasia with hair-tooth defects Is a True Congenital anomaly of hair Inferred relationship Some
Ectodermal syndrome with hair-sweating defects (disorder) Is a True Congenital anomaly of hair Inferred relationship Some
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Is a True Congenital anomaly of hair Inferred relationship Some
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Is a True Congenital anomaly of hair Inferred relationship Some
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 Some
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Is a True Congenital anomaly of hair Inferred relationship Some
Congenital hypoplasia of eyebrow Is a True Congenital anomaly of hair Inferred relationship Some

This concept is not in any reference sets

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