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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
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

2544 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 Some
Congenital anomaly of head Is a Disorder of head (disorder) true Inferred relationship Some
Congenital anomaly of head Occurrence Congenital false Inferred relationship Some
Congenital anomaly of head Finding site Head structure true Inferred relationship Some 1
Congenital anomaly of head Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital anomaly of head Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of head Finding site Head structure false Inferred relationship Some 1
Congenital anomaly of head Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of head Is a Congenital disease false Inferred relationship Some
Congenital anomaly of head Is a Congenital anomaly false Inferred relationship Some
Congenital anomaly of head Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of head Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of head Finding site Head structure false Inferred relationship Some 2
Congenital anomaly of head Is a Congenital malformation true Inferred relationship Some
Congenital anomaly of head Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of head Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of head Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Coffin-Siris syndrome Is a False Congenital anomaly of head Inferred relationship Some
Lissencephaly Is a False Congenital anomaly of head Inferred relationship Some
A paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood. Is a False Congenital anomaly of head Inferred relationship Some
Neuroaxonal leukodystrophy (disorder) Is a False Congenital anomaly of head Inferred relationship Some
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. Is a False Congenital anomaly of head Inferred relationship Some
Congenital disorder of facial nerve Is a False Congenital anomaly of head Inferred relationship Some
Multicystic encephalomalacia Is a False Congenital anomaly of head Inferred relationship Some
Periventricular leucomalacia Is a False Congenital anomaly of head Inferred relationship Some
Congenital pseudobulbar palsy Is a False Congenital anomaly of head Inferred relationship Some
Congenital dysphasia Is a False Congenital anomaly of head Inferred relationship Some
Laurence-Moon syndrome Is a False Congenital anomaly of head Inferred relationship Some
Persistent cerebral embryonic artery Is a False Congenital anomaly of head Inferred relationship Some
Odontotrichomelic syndrome (disorder) Is a False Congenital anomaly of head Inferred relationship Some
Congenital absence of skin on scalp Is a True Congenital anomaly of head Inferred relationship Some
Hutchinson's triad Is a False Congenital anomaly of head Inferred relationship Some
Abnormality of neurogenesis Is a False Congenital anomaly of head Inferred relationship Some
Defect of telencephalic division Is a False Congenital anomaly of head Inferred relationship Some
Neuronal heterotopia Is a False Congenital anomaly of head Inferred relationship Some
Cortical dysplasia Is a False Congenital anomaly of head Inferred relationship Some
Schizencephaly Is a False Congenital anomaly of head Inferred relationship Some
Colpocephaly Is a False Congenital anomaly of head Inferred relationship Some
Microdysgenesis Is a False Congenital anomaly of head Inferred relationship Some
Dysgenesis of the cerebellum Is a False Congenital anomaly of head Inferred relationship Some
Dysgenesis of the brainstem Is a False Congenital anomaly of head Inferred relationship Some
Chiari malformation (disorder) Is a False Congenital anomaly of head Inferred relationship Some
Aneurysm of the vein of Galen Is a False Congenital anomaly of head Inferred relationship Some
Persistent embryonic trigeminal artery Is a False Congenital anomaly of head Inferred relationship Some
Persistent embryonic otic artery Is a False Congenital anomaly of head Inferred relationship Some
Persistent embryonic hypoglossal artery (disorder) Is a False Congenital anomaly of head Inferred relationship Some
Persistent embryonic proatlantal intersegmental artery Is a False Congenital anomaly of head Inferred relationship Some
Congenital malformation of tongue, mouth and pharynx Is a False Congenital anomaly of head Inferred relationship Some
Bregeat's syndrome Is a False Congenital anomaly of head Inferred relationship Some
dysgénésie cérébrale Is a False Congenital anomaly of head Inferred relationship Some
Congenital non-progressive ataxia Is a False Congenital anomaly of head Inferred relationship Some
Retinal dystrophy in systemic lipidosis Is a False Congenital anomaly of head Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Is a False Congenital anomaly of head Inferred relationship Some
Albinism Is a False Congenital anomaly of head Inferred relationship Some
macrocéphalie Is a False Congenital anomaly of head Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a False Congenital anomaly of head Inferred relationship Some
HSMN IV Is a False Congenital anomaly of head Inferred relationship Some
Kearns-Sayre syndrome Is a False Congenital anomaly of head Inferred relationship Some
Dubowitz's syndrome Is a False Congenital anomaly of head Inferred relationship Some
Syringobulbia Is a False Congenital anomaly of head Inferred relationship Some
Congenital deformity of forehead Is a False Congenital anomaly of head Inferred relationship Some
Adams-Oliver syndrome Is a False Congenital anomaly of head Inferred relationship Some
Osteogenesis imperfecta with blue sclerae Is a False Congenital anomaly of head Inferred relationship Some
Scrapie Is a False Congenital anomaly of head Inferred relationship Some
Lethal glossopharyngeal defect Is a False Congenital anomaly of head Inferred relationship Some
Craniometaphyseal dysplasia Is a True Congenital anomaly of head Inferred relationship Some
Acraniate monster Is a False Congenital anomaly of head Inferred relationship Some
Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non-dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. Is a False Congenital anomaly of head Inferred relationship Some
Gyrate atrophy of the choroid AND/OR retina (disorder) Is a False Congenital anomaly of head Inferred relationship Some
Gouty iritis Is a False Congenital anomaly of head Inferred relationship Some
Von Hippel-Lindau syndrome Is a False Congenital anomaly of head Inferred relationship Some
Kernicterus of newborn Is a False Congenital anomaly of head Inferred relationship Some
Congenital anomaly of skull Is a False Congenital anomaly of head Inferred relationship Some
Bovine spongiform encephalopathy Is a False Congenital anomaly of head Inferred relationship Some
Congenital structural abnormality of orbit proper (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Bardet-Biedl syndrome Is a False Congenital anomaly of head Inferred relationship Some
Congenital anomaly of brain Is a True Congenital anomaly of head Inferred relationship Some
Seckel syndrome Is a False Congenital anomaly of head Inferred relationship Some
Leber's optic atrophy Is a False Congenital anomaly of head Inferred relationship Some
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Is a False Congenital anomaly of head Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis Is a False Congenital anomaly of head Inferred relationship Some
Acephalocheiria Is a False Congenital anomaly of head Inferred relationship Some
Alstrom syndrome Is a False Congenital anomaly of head Inferred relationship Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a False Congenital anomaly of head Inferred relationship Some
Congenital anomaly of cerebrovascular system Is a False Congenital anomaly of head Inferred relationship Some
Cerebral-retinal arteriovenous aneurysm (disorder) Is a False Congenital anomaly of head Inferred relationship Some
Pili torti-deafness syndrome Is a False Congenital anomaly of head Inferred relationship Some
Lhermitte-Duclos disease Is a False Congenital anomaly of head Inferred relationship Some
Disorder of central nervous system due to xeroderma pigmentosum Is a False Congenital anomaly of head Inferred relationship Some
Congenital anomaly of pituitary gland Is a False Congenital anomaly of head Inferred relationship Some
Craniopagus Is a True Congenital anomaly of head Inferred relationship Some
Congenital absence of the spinal cord and brain Is a False Congenital anomaly of head Inferred relationship Some
Congenital anomaly of face Is a False Congenital anomaly of head Inferred relationship Some
Sotos' syndrome Is a False Congenital anomaly of head Inferred relationship Some
Marfanoid mental retardation syndrome Is a False Congenital anomaly of head Inferred relationship Some
Stickler syndrome Is a False Congenital anomaly of head Inferred relationship Some
Creutzfeldt-Jakob disease Is a False Congenital anomaly of head Inferred relationship Some
A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Is a False Congenital anomaly of head Inferred relationship Some
Dementia paralytica juvenilis Is a False Congenital anomaly of head Inferred relationship Some
Congenital anomaly of ear Is a False Congenital anomaly of head Inferred relationship Some
Kuru Is a False Congenital anomaly of head Inferred relationship Some
Acephaly Is a True Congenital anomaly of head Inferred relationship Some
museau court congénital Is a False Congenital anomaly of head Inferred relationship Some
Congenital anomaly of optic nerve Is a False Congenital anomaly of head Inferred relationship Some
Congenital strabismus Is a False Congenital anomaly of head Inferred relationship Some
Late congenital syphilitic oculopathy Is a False Congenital anomaly of head Inferred relationship Some
Retinal dystrophy in cerebroretinal lipidosis Is a False Congenital anomaly of head Inferred relationship Some
Cerebral degeneration in Hunter's disease Is a False Congenital anomaly of head Inferred relationship Some
Cerebral degeneration in mucopolysaccharidosis (disorder) Is a False Congenital anomaly of head Inferred relationship Some
Reduction deformities of brain Is a False Congenital anomaly of head Inferred relationship Some
Anomalies of cerebrum Is a False Congenital anomaly of head Inferred relationship Some
Cebocephaly Is a False Congenital anomaly of head Inferred relationship Some
Congenital brain anomaly Is a False Congenital anomaly of head Inferred relationship Some
Cerebrovascular system anomalies Is a False Congenital anomaly of head Inferred relationship Some
Congenital stricture of cerebral artery Is a False Congenital anomaly of head Inferred relationship Some
Congenital arteriovenous fistula of brain Is a False Congenital anomaly of head Inferred relationship Some
Carpenter's syndrome Is a False Congenital anomaly of head Inferred relationship Some
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Is a False Congenital anomaly of head Inferred relationship Some

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