1231423008: Hypoplasia of hypothalamus (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Limbic disorder\Disorder of hypothalamus (disorder)\Hypoplasia of hypothalamus (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Limbic disorder\Disorder of hypothalamus (disorder)\Hypoplasia of hypothalamus (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain\Limbic disorder\Disorder of hypothalamus (disorder)\Hypoplasia of hypothalamus (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Limbic disorder\Disorder of hypothalamus (disorder)\Hypoplasia of hypothalamus (disorder)

\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Limbic disorder\Disorder of hypothalamus (disorder)\Hypoplasia of hypothalamus (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Limbic disorder\Disorder of hypothalamus (disorder)\Hypoplasia of hypothalamus (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5072702010 Hypoplasia of hypothalamus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5072703017 Hypoplasia of hypothalamus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5072702010 Hypoplasia of hypothalamus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5072703017 Hypoplasia of hypothalamus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypoplasia of hypothalamus (disorder)	Is a	Disorder of hypothalamus (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypoplasia of hypothalamus (disorder)	Finding site	Hypothalamic structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypoplasia of hypothalamus (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Septo-optic dysplasia sequence	Is a	False	Hypoplasia of hypothalamus (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	Is a	False	Hypoplasia of hypothalamus (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets