30915001: Holoprosencephaly sequence (disorder)

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

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

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence

Status: current, Not 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
Holoprosencephaly sequence	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Holoprosencephaly sequence	Is a	Defect of telencephalic division	false	Inferred relationship	Some
Holoprosencephaly sequence	Is a	Malformation sequence	true	Inferred relationship	Some
Holoprosencephaly sequence	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Finding site	Prosencephalon structure	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Finding site	Structure of telencephalon	false	Inferred relationship	Some
Holoprosencephaly sequence	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Holoprosencephaly sequence	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Finding site	Brain structure	false	Inferred relationship	Some	1
Holoprosencephaly sequence	Occurrence	Congenital	false	Inferred relationship	Some
Holoprosencephaly sequence	Finding site	Structure of telencephalon (body structure)	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Associated morphology	Congenital malformation	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Finding site	Prosencephalon structure	false	Inferred relationship	Some	1
Holoprosencephaly sequence	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Holoprosencephaly sequence	Finding site	Structure of telencephalon (body structure)	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Holoprosencephaly sequence	Finding site	Prosencephalon structure	false	Inferred relationship	Some	1
Holoprosencephaly sequence	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Holoprosencephaly sequence	Is a	Disorder of embryonic structure (disorder)	false	Inferred relationship	Some
Holoprosencephaly sequence	Occurrence	Congenital	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Holoprosencephaly sequence	Finding site	Head structure	false	Inferred relationship	Some	2
Holoprosencephaly sequence	Occurrence	Congenital	true	Inferred relationship	Some	1
Holoprosencephaly sequence	Finding site	Head structure	true	Inferred relationship	Some	1
Holoprosencephaly sequence	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Holoprosencephaly sequence	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lobar holoprosencephaly	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Alobar holoprosencephaly	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Semi-lobar holoprosencephaly	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Kundrat's syndrome	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Cebocephaly	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome (disorder)	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Ethmocephalus	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Middle interhemispheric variant of holoprosencephaly (disorder)	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis (disorder)	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
A benign form of holoprosencephaly characterised by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.	Is a	True	Holoprosencephaly sequence	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
51765017	Holoprosencephaly sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
51766016	Holoprosencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
51768015	Familial alobar holoprosencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484738017	HPE - Holoprosencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
761977010	Holoprosencephaly sequence (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
599081000172111	holoprosencéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3415481001000115	Holoprosenzephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module