1197588008: X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 28-Feb 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4697269016 X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

4697270015 X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Is a	Congenital prognathism	true	Inferred relationship	Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	4
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Finding site	Bone structure of jaw	true	Inferred relationship	Existential restriction modifier	1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Associated morphology	Protrusion	true	Inferred relationship	Existential restriction modifier	1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Finding site	Structure of genitourinary system	true	Inferred relationship	Existential restriction modifier	3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4697269016	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
4697270015	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module