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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital microcephaly\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital microcephaly\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Disease\Developmental disorder\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
• \Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697269016	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4697270015	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4697271016	A rare syndromic intellectual disability with characteristics of hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Caused by mutation in the RPL10 gene on chromosome Xq28.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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