237837007: Primordial dwarfism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism

\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism

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

Descriptions:

Id Description Lang Type Status Case? Module

356425016 Primordial dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626621012 Primordial dwarfism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2770440014 Pure dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2770441013 Pure dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2770442018 True dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2771034017 Normal dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2771035016 Normal dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2771791015 True dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2772412012 Nanosomia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primordial dwarfism	Is a	Short stature disorder	true	Inferred relationship	Some
Primordial dwarfism	Is a	Dwarfism	false	Inferred relationship	Some
Primordial dwarfism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Primordial dwarfism	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency	Is a	True	Primordial dwarfism	Inferred relationship	Some
Russell-Silver syndrome	Is a	True	Primordial dwarfism	Inferred relationship	Some
Seckel syndrome	Is a	True	Primordial dwarfism	Inferred relationship	Some
Ear, patella, short stature syndrome (disorder)	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	True	Primordial dwarfism	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic primordial dwarfism Montreal type	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic primordial dwarfism Alazami type (disorder)	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic primordial dwarfism Dauber type	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)	Is a	True	Primordial dwarfism	Inferred relationship	Some
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder)	Is a	True	Primordial dwarfism	Inferred relationship	Some

This concept is not in any reference sets