51655004: Congenital anomaly of skull (disorder)

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

\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of skull	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Congenital anomaly of skull	Is a	Disorder of skull (disorder)	true	Inferred relationship	Some
Congenital anomaly of skull	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Congenital anomaly of skull	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of skull	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Congenital anomaly of skull	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of skull	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital anomaly of skull	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Congenital anomaly of skull	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of skull	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of skull	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of skull	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital anomaly of skull	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Some
Congenital anomaly of skull	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of skull	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of skull	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mandibuloacral dysostosis	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Dilatation of the vestibular aqueduct	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital stricture of osseous meatus of middle ear	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital abnormality of skull and face bones	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Cranial hydromeningocele	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Occipital dysplasia	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Hypertelorism	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Craniorachischisis	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital perforation of wall of nasal sinus	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital deformity of wall of nasal sinus	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Monster with cranial anomalies	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital atresia of osseous meatus of middle ear	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Podencephalus	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Sinus pericranii	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Hyperphosphatasemia tarda	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Median palatal cyst	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Ecchordosis physaliphora	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Frontal bossing	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital absence of cranial vault (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of jaw	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Deformity of nasal sinus wall	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital perforation of the nasal sinus wall	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital cerebral meningocele	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Cranial duplication	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Anencephalus	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Deformity of nasal sinus wall	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital perforation of the nasal sinus wall	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Hydrencephalomeningocele	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital deformity of wall of nasal sinus	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Monster with cranial anomalies	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Eruption cyst of jaw	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital atresia of osseous meatus of middle ear	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of organ of Corti	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
hydroméningocèle crânienne congénitale	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Iniencephaly	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of alisphenoid bone	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital retrognathism (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Holoanencephaly (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital macrognathism	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Dysostosis of bone of skull	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of maxilla	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital micrognathism	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital prognathism	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Hemianencephaly	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Lateral developmental cyst of jaw	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital stricture of osseous meatus of middle ear	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital hypoplasia of nasal turbinate	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital fenestration of supraoccipital bone	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Incomplete ossification of supraoccipital bone	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital malposition of nasal turbinate	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of organ of Corti	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Bipartite ossification of supraoccipital bone	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Craniorachischisis	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital enlargement of fontanel	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of frontal bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of zygomatic bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of exoccipital bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of squamosal bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of interparietal bone (disorder)	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of basioccipital bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of palatine bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of parietal bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital anomaly of nasal bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital abnormality of skull shape	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital absence of skull bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital malformation of sphenoid wing (disorder)	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Bicoronal craniosynostosis	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital hypertrophy of sphenoid bone	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Acrocephaly	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Defect of skull ossification	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Interparietal craniosynostosis (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Parieto-occipital craniosynostosis	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Spheno-fronto-parietal craniofaciosynostosis (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Atlanto-occipital malformation	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Cranioschisis	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Cloverleaf skull syndrome	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Antley-Bixler syndrome	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Unicoronal craniosynostosis	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Cranial duplication	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Craniotabes	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital enlargement of fontanel	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Craniolacunia	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium.	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Derencephalus	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Atretocephalus	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Synotus	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Congenital J shaped sella turcica (disorder)	Is a	True	Congenital anomaly of skull	Inferred relationship	Some
Diastematocrania	Is a	False	Congenital anomaly of skull	Inferred relationship	Some
Delayed membranous cranial ossification (disorder)	Is a	True	Congenital anomaly of skull	Inferred relationship	Some

Page 1 of 2 End

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
86021011	Congenital anomaly of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
86024015	Congenital skull malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
789578015	Congenital anomaly of skull (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
377231000195112	malformazione congenita del cranio	it	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
86191000172115	anomalie congénitale du crâne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
661171000274112	Angeborene Schädelfehlbildung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module