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770564004: Microcephalic primordial dwarfism Alazami type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701290014 Microcephalic primordial dwarfism Alazami type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701291013 Microcephalic primordial dwarfism Alazami type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701292018 Alazami syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404810014 A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404811013 A rare form of primordial dwarfism, often microcephalic, characterised by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalic primordial dwarfism Alazami type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Occurrence Congenital true Inferred relationship Some 1
Microcephalic primordial dwarfism Alazami type (disorder) Occurrence Congenital true Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) Is a Primordial dwarfism true Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a Intellectual disability true Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a Microcephalus false Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Finding site Face structure true Inferred relationship Some 1
Microcephalic primordial dwarfism Alazami type (disorder) Finding site Brain structure false Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephalic primordial dwarfism Alazami type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Microcephalic primordial dwarfism Alazami type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Interprets Height / growth measure true Inferred relationship Some 3
Microcephalic primordial dwarfism Alazami type (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Microcephalic primordial dwarfism Alazami type (disorder) Finding site Head structure true Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) Interprets Birth head circumference true Inferred relationship Some 4
Microcephalic primordial dwarfism Alazami type (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Microcephalic primordial dwarfism Alazami type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Microcephalic primordial dwarfism Alazami type (disorder) Has interpretation Impaired true Inferred relationship Some 5
Microcephalic primordial dwarfism Alazami type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Microcephalic primordial dwarfism Alazami type (disorder) Has interpretation Impaired true Inferred relationship Some 6
Microcephalic primordial dwarfism Alazami type (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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