87290003: Congenital anomaly of head (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head
\Disease\Disorder of head (disorder)\Congenital anomaly of head
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head

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

2011921000005113 Kongenit anomali af hovedet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of head	Finding site	Head structure	false	Inferred relationship	Some	1
Congenital anomaly of head	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of head	Is a	Congenital disease	false	Inferred relationship	Some
Congenital anomaly of head	Is a	kongenit anomali	false	Inferred relationship	Some
Congenital anomaly of head	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of head	Associated morphology	dysgenese	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 mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA.	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-Moons syndrom	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	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	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	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 (disorder)	Is a	False	Congenital anomaly of head	Inferred relationship	Some
Bregeat's syndrome	Is a	False	Congenital anomaly of head	Inferred relationship	Some
Cerebral dysgenese	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 with characteristics of 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. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Is a	False	Congenital anomaly of head	Inferred relationship	Some
Albinism	Is a	False	Congenital anomaly of head	Inferred relationship	Some
makrocefali	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
Letal glossofaryngal defekt	Is a	False	Congenital anomaly of head	Inferred relationship	Some
Craniometaphyseal dysplasia	Is a	True	Congenital anomaly of head	Inferred relationship	Some
Akraniat misfoster	Is a	False	Congenital anomaly of head	Inferred relationship	Some
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of 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 (see this term) the more severe, early onset form, with characteristics of 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
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, 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 (disorder)	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 (disorder)	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 mentalt retarderingsyndrom	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 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	Some
Dementia paralytica juvenilis	Is a	False	Congenital anomaly of head	Inferred relationship	Some
kongenit anomali af øre	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
Congenitally short snout	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
reduktionsdeformiteter af hjernen	Is a	False	Congenital anomaly of head	Inferred relationship	Some
cerebrale anomalier	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
Anomalier af cerebrovaskulære system	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
akrocefalopolysyndaktyli	Is a	False	Congenital anomaly of head	Inferred relationship	Some
Kohlschutter's syndrome	Is a	False	Congenital anomaly of head	Inferred relationship	Some

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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
2011921000005113	Kongenit anomali af hovedet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)