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1295529002: Xp21 deletion syndrome (disorder)

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

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

\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)

\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)

\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Xp21 deletion syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Xp21 deletion syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Xp21 deletion syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Xp21 deletion syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Xp21 deletion syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Xp21 deletion syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Xp21 deletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Xp21 deletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (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 (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Xp21 deletion syndrome (disorder)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of glycerol kinase\Xp21 deletion syndrome (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glycerol metabolism\Deficiency of glycerol kinase\Xp21 deletion syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Xp21 deletion syndrome (disorder)
\Disease\Developmental 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 (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of adrenal gland (disorder)\Congenital hypoplasia of adrenal gland\Xp21 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5283917017 Xp21 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5283918010 Xp21 contiguous gene deletion syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5283919019 Xp21 deletion syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5283920013 Xp21 deletion syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5283921012 Complex GKD (complex glycerol kinase deficiency) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5283922017 Complex glycerol kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5283923010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Xp21 deletion syndrome (disorder)	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Xp21 deletion syndrome (disorder)	Is a	Deficiency of glycerol kinase	true	Inferred relationship	Some
Xp21 deletion syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Xp21 deletion syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Xp21 deletion syndrome (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Xp21 deletion syndrome (disorder)	Is a	Congenital hypoplasia of adrenal gland	true	Inferred relationship	Some
Xp21 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Xp21 deletion syndrome (disorder)	Finding site	Adrenal cortex structure	true	Inferred relationship	Some	1
Xp21 deletion syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Xp21 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Xp21 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Xp21 deletion syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
Xp21 deletion syndrome (disorder)	Associated morphology	Deletion (morphologic abnormality)	true	Inferred relationship	Some	2
Xp21 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Xp21 deletion syndrome (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	3
Xp21 deletion syndrome (disorder)	Associated morphology	Deletion (morphologic abnormality)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5283917017	Xp21 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283918010	Xp21 contiguous gene deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283919019	Xp21 deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283920013	Xp21 deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283921012	Complex GKD (complex glycerol kinase deficiency)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5283922017	Complex glycerol kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283923010	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core