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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
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 Is a Longitudinal deficiency of limb false Inferred relationship Some
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Associated morphology anomalie du développement false Inferred relationship Some
Micromelia Associated morphology Congenital smallness false Inferred relationship Some 1
Micromelia Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Micromelia Finding site Musculoskeletal structure of limb false Inferred relationship Some
Micromelia Occurrence Congenital false Inferred relationship Some
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Finding site Limb structure false Inferred relationship Some 2
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Finding site Limb structure false Inferred relationship Some 2
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Finding site Limb structure false Inferred relationship Some 2
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Finding site Limb structure false Inferred relationship Some 2
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Finding site Limb structure false Inferred relationship Some 2
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Finding site Limb structure false Inferred relationship Some 2
Micromelia Finding site Limb structure false Inferred relationship Some 1
Micromelia Associated morphology Congenital smallness false Inferred relationship Some 1
Micromelia Occurrence Congenital false Inferred relationship Some 2
Micromelia Finding site Limb structure false Inferred relationship Some 2
Micromelia Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Micromelia Occurrence Congenital false Inferred relationship Some 3
Micromelia Associated morphology Abnormal shortening false Inferred relationship Some 3
Micromelia Finding site Limb structure false Inferred relationship Some 3
Micromelia Associated morphology Abnormal shortening false Inferred relationship Some 2
Micromelia Is a Congenital anomaly of limb true Inferred relationship Some
Micromelia Finding site Entire limb false Inferred relationship Some 2
Micromelia Associated morphology Congenital smallness false Inferred relationship Some 4
Micromelia Occurrence Congenital false Inferred relationship Some 4
Micromelia Finding site Limb structure false Inferred relationship Some 4
Micromelia Occurrence Congenital true Inferred relationship Some 1
Micromelia Finding site Entire limb true Inferred relationship Some 1
Micromelia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Micromelia Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 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 Inferred relationship Some
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Is a True Micromelia Inferred relationship Some
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. Is a True Micromelia Inferred relationship Some
Diastrophic dysplasia Is a True Micromelia Inferred relationship Some
Micromelic dwarfism Fryn type Is a True Micromelia Inferred relationship Some
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. Is a True Micromelia Inferred relationship Some
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Is a True Micromelia Inferred relationship Some

This concept is not in any reference sets

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