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725461009: Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3443211011 Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3443212016 Microcephalic osteodysplastic primordial dwarfism types I and III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3443213014 Microcephalic osteodysplastic primordial dwarfism Taybi Linder type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3443214015 Primordial microcephalic dwarfism Crachami type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3443215019 Taybi Linder syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403478012 A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403479016 A rare, severe, primary bone dysplasia characterised by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443211011 Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3443212016 Microcephalic osteodysplastic primordial dwarfism types I and III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3443213014 Microcephalic osteodysplastic primordial dwarfism Taybi Linder type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3443214015 Primordial microcephalic dwarfism Crachami type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3443215019 Taybi Linder syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443216018 Disease with characteristics of intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). Histological studies suggest that MOPD types 1 and 3 result from a basic defect in cell proliferation and tissue differentiation. Transmitted as autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403478012 A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403479016 A rare, severe, primary bone dysplasia characterised by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425991001000119 Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ I und III de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968821000172119 nanisme microcéphalique ostéodysplasique primordial types I et III fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980071000172110 MOPD (microcephalic osteodysplastic primordial dwarfism) types I et III fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968821000172119 nanisme microcéphalique ostéodysplasique primordial types I et III fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980071000172110 MOPD (microcephalic osteodysplastic primordial dwarfism) types I et III fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425991001000119 Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ I und III de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalic osteodysplastic primordial dwarfism types I and III Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Is a Osteodysplastic primordial dwarfism true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic osteodysplastic primordial dwarfism types I and III Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic osteodysplastic primordial dwarfism types I and III Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalic osteodysplastic primordial dwarfism types I and III Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalic osteodysplastic primordial dwarfism types I and III Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic osteodysplastic primordial dwarfism types I and III Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic osteodysplastic primordial dwarfism types I and III Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic osteodysplastic primordial dwarfism types I and III Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic osteodysplastic primordial dwarfism types I and III Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalic osteodysplastic primordial dwarfism types I and III Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalic osteodysplastic primordial dwarfism types I and III Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic osteodysplastic primordial dwarfism types I and III Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalic osteodysplastic primordial dwarfism types I and III Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

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