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371169004: Partial monosomy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial monosomy (morphologic abnormality) Is a Karyotype morphology true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
2p15p16.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
2p15p16.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
13q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 13q14 syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 13q syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Monosomy 13q34 syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1p35.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
1p35.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
9q33.3q34.11 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
17q24.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q24.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
9q21.13 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
11q22.2q22.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
20q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
20q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
4q25 proximal deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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