771439009: 14q22q23 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\14q22q23 microdeletion syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\14q22q23 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14\14q22q23 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14\14q22q23 microdeletion syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\14q22q23 microdeletion syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\14q22q23 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\14q22q23 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\14q22q23 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\14q22q23 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14\14q22q23 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14\14q22q23 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\14q22q23 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\14q22q23 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\14q22q23 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706197018	Monosomy 14q22q23	en	Synonym	Active	Case insensitive	SNOMED CT core
3706198011	14q22q23 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3706199015	14q22-q23 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3706200017	Monosomy 14q22-q23	en	Synonym	Active	Case insensitive	SNOMED CT core
3706201018	14q22q23 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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