254255007: Congenital malformation of anterior pituitary (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378485013 Congenital malformation of anterior pituitary en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645121011 Congenital malformation of anterior pituitary (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3006583014 Congenital anomaly of anterior pituitary en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5083141000241110 malformation congénitale de l'hypophyse antérieure fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation of anterior pituitary	Is a	Congenital anomaly of pituitary gland	true	Inferred relationship	Some
Congenital malformation of anterior pituitary	Is a	Disorder of anterior pituitary	true	Inferred relationship	Some
Congenital malformation of anterior pituitary	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation of anterior pituitary	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Congenital malformation of anterior pituitary	Finding site	Pars anterior of pituitary gland	false	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Finding site	Pituitary structure	false	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital malformation of anterior pituitary	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital malformation of anterior pituitary	Finding site	Structure of distal part of pituitary	false	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Finding site	Structure of distal part of pituitary	false	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital malformation of anterior pituitary	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital malformation of anterior pituitary	Finding site	Adenohypophysis structure	false	Inferred relationship	Some	2
Congenital malformation of anterior pituitary	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Finding site	Adenohypophysis structure	true	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital malformation of anterior pituitary	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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	Congenital malformation of anterior pituitary	Inferred relationship	Some
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Is a	True	Congenital malformation of anterior pituitary	Inferred relationship	Some
Congenital hypoplasia of anterior pituitary	Is a	True	Congenital malformation of anterior pituitary	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378485013	Congenital malformation of anterior pituitary	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645121011	Congenital malformation of anterior pituitary (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006583014	Congenital anomaly of anterior pituitary	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5083141000241110	malformation congénitale de l'hypophyse antérieure	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module