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717632002: X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3309867016 X-linked lissencephaly with abnormal genitalia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309868014 X-linked lissencephaly with ambiguous genitalia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309870017 X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309871018 X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401579011 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401580014 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioural abnormalities, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309867016 X-linked lissencephaly with abnormal genitalia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309868014 X-linked lissencephaly with ambiguous genitalia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309870017 X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309871018 X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309869018 A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401579011 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401580014 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioural abnormalities, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3387651001000112 X-chromosomale Lissenzephalie mit Genitalanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387651001000112 X-chromosomale Lissenzephalie mit Genitalanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a Agenesis of corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a Lissencephaly true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a Congenital malformation of genital organs true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Finding site Entire corpus callosum false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Finding site Genital structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Finding site Entire corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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