770754006: 2p21 microdeletion syndrome without cystinuria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\2p21 microdeletion syndrome without cystinuria (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\2p21 microdeletion syndrome without cystinuria (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\2p21 microdeletion syndrome without cystinuria (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Mild intellectual disability (disorder)\2p21 microdeletion syndrome without cystinuria (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\2p21 microdeletion syndrome without cystinuria (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\2p21 microdeletion syndrome without cystinuria (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \General finding of soft tissue\Poor muscle tone (finding)\2p21 microdeletion syndrome without cystinuria (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\2p21 microdeletion syndrome without cystinuria (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Mild intellectual disability (disorder)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Mild intellectual disability (disorder)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Mild intellectual disability (disorder)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Muscle finding\Finding of muscle tone (finding)\Poor muscle tone (finding)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\2p21 microdeletion syndrome without cystinuria (disorder)
• \Musculoskeletal finding\Poor muscle tone (finding)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\2p21 microdeletion syndrome without cystinuria (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\2p21 microdeletion syndrome without cystinuria (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\2p21 microdeletion syndrome without cystinuria (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\2p21 microdeletion syndrome without cystinuria (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\2p21 microdeletion syndrome without cystinuria (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\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of short arm of chromosome 2 (disorder)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Mild intellectual disability (disorder)\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\2p21 microdeletion syndrome without cystinuria (disorder)
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\2p21 microdeletion syndrome without cystinuria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702465012	2p21 microdeletion syndrome without cystinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702466013	2p21 microdeletion syndrome without cystinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404911014	2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404912019	2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterised by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	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)

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