93235007: Congenital hypoplasia of adrenal gland (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland (disorder)\...

\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)

\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)

\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Disease of adrenal cortex\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland (disorder)\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland\Congenital hypoplasia of adrenal gland (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypoplasia of adrenal gland (disorder)	Is a	Adrenal cortical hypofunction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of adrenal gland (disorder)	Is a	Congenital anomaly of adrenal gland	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of adrenal gland (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of adrenal gland (disorder)	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of adrenal gland (disorder)	Finding site	Adrenal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of adrenal gland (disorder)	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of adrenal gland (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of adrenal gland (disorder)	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of adrenal gland (disorder)	Is a	Adrenal cortical hypofunction (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of adrenal gland (disorder)	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplasia of adrenal gland (disorder)	Finding site	Adrenal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of adrenal gland (disorder)	Finding site	Adrenal cortex structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of adrenal gland (disorder)	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of adrenal gland (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypoplasia of adrenal gland (disorder)	Associated morphology	Hypoplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypoplasia of adrenal gland (disorder)	Finding site	Adrenal cortex structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypoplasia of adrenal gland (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of adrenal gland (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypoplasia of adrenal gland (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital adrenal hypoplasia, X-linked (disorder)	Is a	True	Congenital hypoplasia of adrenal gland (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial adrenocortical hypoplasia	Is a	True	Congenital hypoplasia of adrenal gland (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.	Is a	True	Congenital hypoplasia of adrenal gland (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Is a	True	Congenital hypoplasia of adrenal gland (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder)	Is a	True	Congenital hypoplasia of adrenal gland (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
MIRAGE syndrome	Is a	True	Congenital hypoplasia of adrenal gland (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.	Is a	True	Congenital hypoplasia of adrenal gland (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
154259018	Congenital hypoplasia of adrenal gland	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
154260011	Congenital small adrenal gland	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
510260012	Congenital adrenal hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
510261011	CAH - Congenital adrenal hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
836926011	Congenital hypoplasia of adrenal gland (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
154259018	Congenital hypoplasia of adrenal gland	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
154259018	Congenital hypoplasia of adrenal gland	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
154260011	Congenital small adrenal gland	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
154260011	Congenital small adrenal gland	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
510260012	Congenital adrenal hypoplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
510260012	Congenital adrenal hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
510261011	CAH - Congenital adrenal hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
836926011	Congenital hypoplasia of adrenal gland (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
836926011	Congenital hypoplasia of adrenal gland (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4708411000241119	hypoplasie de la glande surrénale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4708411000241119	hypoplasie de la glande surrénale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module