FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

87290003: Congenital anomaly of head (disorder)

Status: current, 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
144746018 Congenital anomaly of head en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
829732015 Congenital anomaly of head (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
144746018 Congenital anomaly of head en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
144746018 Congenital anomaly of head en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
829732015 Congenital anomaly of head (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
829732015 Congenital anomaly of head (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
345261000077112 anomalie congénitale de la tête fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
345261000077112 anomalie congénitale de la tête fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2477 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of head Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of head Is a Disorder of head (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of head Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of head Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of head Is a Ear, face and neck congenital anomalies (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of head Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of head Finding site Head structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of head Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of head Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of head Is a Congenital anomaly false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of head Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of head Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of head Finding site Head structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of head Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of head Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of head Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of head Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Coffin-Siris syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Sandifer syndrome (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Neuroaxonal leukodystrophy Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of facial nerve Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Multicystic encephalomalacia Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Periventricular leucomalacia Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pseudobulbar palsy Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysphasia Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Laurence-Moon syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Persistent cerebral embryonic artery Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Odontotrichomelic syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of skin on scalp Is a True Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Hutchinson's triad Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Abnormality of neurogenesis Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Defect of telencephalic division Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Neuronal heterotopia (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Cortical dysplasia Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Schizencephaly Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Colpocephaly Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Microdysgenesis Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Chiari malformation Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Aneurysm of the vein of Galen Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Persistent embryonic trigeminal artery Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Persistent embryonic otic artery Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Persistent embryonic hypoglossal artery (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Persistent embryonic proatlantal intersegmental artery Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of tongue, mouth and pharynx Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Bregeat's syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
dysgénésie cérébrale Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Retinal dystrophy in systemic lipidosis Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Lowry syndrome (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Albinism Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
macrocéphalie Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Borjeson-Forssman-Lehmann syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Kearns-Sayre syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Dubowitz's syndrome (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Syringobulbia Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of forehead (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Adams-Oliver syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta with blue sclerae Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Scrapie Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Lethal glossopharyngeal defect Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Craniometaphyseal dysplasia Is a True Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Acraniate monster Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Sialidosis Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Gyrate atrophy of the choroid AND/OR retina (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Gouty iritis (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Kernicterus of newborn (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Bovine spongiform encephalopathy Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital structural abnormality of orbit proper (disorder) Is a True Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Bardet-Biedl syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Is a True Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Seckel syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Leber's optic atrophy Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
de Barsey syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile neuronal ceroid lipofuscinosis (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Acephalocheiria Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of cerebrovascular system Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral-retinal arteriovenous aneurysm (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti-deafness syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Lhermitte-Duclos disease Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of central nervous system due to xeroderma pigmentosum (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of pituitary gland Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Craniopagus Is a True Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Amyelencephalus (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Sotos' syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid mental retardation syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Jakob-Creutzfeldt disease (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Dementia paralytica juvenilis (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of ear Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Kuru Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Acephaly Is a True Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
museau court congénital Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of optic nerve Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital strabismus Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Late congenital syphilitic oculopathy (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Retinal dystrophy in cerebroretinal lipidosis Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in Hunter's disease Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral degeneration in mucopolysaccharidosis (disorder) Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Reduction deformities of brain Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Anomalies of cerebrum Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Cebocephaly Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brain anomaly Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Cerebrovascular system anomalies Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stricture of cerebral artery Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Congenital arteriovenous fistula of brain Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Carpenter's syndrome Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a False Congenital anomaly of head Inferred relationship Existential restriction modifier (core metadata concept)

Page 1 of 3 Next End

This concept is not in any reference sets

Back to Start