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74370006: Micromelia (disorder)

Status: current, 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
123510010 Micromelia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123512019 Micromelus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123513012 Micromelic dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123515017 Nanomelia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
814861012 Micromelia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
123510010 Micromelia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123510010 Micromelia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123512019 Micromelus en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123512019 Micromelus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123513012 Micromelic dwarf en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123513012 Micromelic dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123515017 Nanomelia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123515017 Nanomelia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
814861012 Micromelia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
814861012 Micromelia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
72791000077118 micromélie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
72791000077118 micromélie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Micromelia (disorder) Is a Longitudinal deficiency of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Micromelia (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Micromelia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Micromelia (disorder) Associated morphology Abnormal shortening false Inferred relationship Existential restriction modifier (core metadata concept) 3
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Micromelia (disorder) Associated morphology Abnormal shortening false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Is a Congenital anomaly of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Micromelia (disorder) Finding site Entire limb false Inferred relationship Existential restriction modifier (core metadata concept) 2
Micromelia (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 4
Micromelia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Micromelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Micromelia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Finding site Entire limb true Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelia (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Is a True Micromelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Is a True Micromelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a True Micromelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Diastrophic dysplasia Is a True Micromelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Micromelic dwarfism Fryn type Is a True Micromelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Micromelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome type 5 Is a True Micromelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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