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771439009: 14q22q23 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706197018 Monosomy 14q22q23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706198011 14q22q23 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706199015 14q22-q23 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706200017 Monosomy 14q22-q23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706201018 14q22q23 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706342018 A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706197018 Monosomy 14q22q23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706197018 Monosomy 14q22q23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706198011 14q22q23 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706198011 14q22q23 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706199015 14q22-q23 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706199015 14q22-q23 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706200017 Monosomy 14q22-q23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706200017 Monosomy 14q22-q23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706201018 14q22q23 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706201018 14q22q23 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706342018 A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
544721000274110 Del(14)(q22q23) de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382241001000110 Mikrodeletionsyndrom 14q22q23 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
881351000172117 del(14)(q22q23) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014121000172114 syndrome de microdélétion 14q22q23 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
881351000172117 del(14)(q22q23) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014121000172114 syndrome de microdélétion 14q22q23 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
544721000274110 Del(14)(q22q23) de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382241001000110 Mikrodeletionsyndrom 14q22q23 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
14q22q23 microdeletion syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 3
14q22q23 microdeletion syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
14q22q23 microdeletion syndrome Is a Deletion of part of chromosome 14 false Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
14q22q23 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q22q23 microdeletion syndrome Finding site Chromosome pair 14 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
14q22q23 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q22q23 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
14q22q23 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
14q22q23 microdeletion syndrome Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q22q23 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q22q23 microdeletion syndrome Finding site Long arm of chromosome (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
14q22q23 microdeletion syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
14q22q23 microdeletion syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
14q22q23 microdeletion syndrome Is a Disorder of limb false Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
14q22q23 microdeletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
14q22q23 microdeletion syndrome Is a Visual system disorder false Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Is a Congenital anomaly of visual system true Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q22q23 microdeletion syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q22q23 microdeletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
14q22q23 microdeletion syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
14q22q23 microdeletion syndrome Is a Congenital anomaly of limb true Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Is a Partial deletion of long arm of chromosome 14 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
14q22q23 microdeletion syndrome Finding site Chromosome pair 14 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q22q23 microdeletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q22q23 microdeletion syndrome Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
14q22q23 microdeletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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