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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\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 (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Protrusion of bone\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\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 (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism 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\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\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)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\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 (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital prognathism\X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder)
• \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 (disorder)
• \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 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697270015	X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399762016	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399763014	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterised by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

GB English

US English

Back to Start