771439009: 14q22q23 microdeletion syndrome (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\14q22q23 microdeletion syndrome

\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\14q22q23 microdeletion syndrome

\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\14q22q23 microdeletion syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\14q22q23 microdeletion syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\14q22q23 microdeletion syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\14q22q23 microdeletion syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital chromosomal disease\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\14q22q23 microdeletion syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\14q22q23 microdeletion syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\14q22q23 microdeletion syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\14q22q23 microdeletion syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\14q22q23 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\14q22q23 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\14q22q23 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\14q22q23 microdeletion syndrome

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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405108019 14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by 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, hearing impairment. Smaller 14q22 deletions may have variable expression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405109010 14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterised by 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, hearing impairment. Smaller 14q22 deletions may have variable expression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

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	Some
14q22q23 microdeletion syndrome	Finding site	Structure of visual system (body structure)	true	Inferred relationship	Some	3
14q22q23 microdeletion syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
14q22q23 microdeletion syndrome	Is a	Deletion of part of chromosome 14 (disorder)	false	Inferred relationship	Some
14q22q23 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
14q22q23 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
14q22q23 microdeletion syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	4
14q22q23 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	4
14q22q23 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
14q22q23 microdeletion syndrome	Finding site	Limb structure	true	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
14q22q23 microdeletion syndrome	Finding site	Long arm of chromosome	false	Inferred relationship	Some	2
14q22q23 microdeletion syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	5
14q22q23 microdeletion syndrome	Is a	Disorder of limb (disorder)	false	Inferred relationship	Some
14q22q23 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
14q22q23 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
14q22q23 microdeletion syndrome	Is a	Visual system disorder	false	Inferred relationship	Some
14q22q23 microdeletion syndrome	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
14q22q23 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
14q22q23 microdeletion syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
14q22q23 microdeletion syndrome	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
14q22q23 microdeletion syndrome	Is a	Partial deletion of long arm of chromosome 14 (disorder)	true	Inferred relationship	Some
14q22q23 microdeletion syndrome	Finding site	Chromosome pair 14	true	Inferred relationship	Some	2
14q22q23 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
14q22q23 microdeletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	4
14q22q23 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405108019	14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by 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, hearing impairment. Smaller 14q22 deletions may have variable expression.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405109010	14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterised by 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, hearing impairment. Smaller 14q22 deletions may have variable expression.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core