771472009: Developmental and speech delay due to SRY-box 5 deficiency (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\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (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\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (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\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Functional finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Functional finding\Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Speech finding\Speech and language finding\...
• \Communication, speech and language finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Genetic disease\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (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\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (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\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Developmental disorder\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Developmental disorder\Developmental delay\Speech delay\Developmental and speech delay due to SRY-box 5 deficiency (disorder)
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Lamb Shaffer syndrome\Developmental and speech delay due to SRY-box 5 deficiency (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
3706358015	Developmental and speech delay due to SRY-box 5 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706359011	Developmental and speech delay due to SOX5 (SRY-box 5) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706360018	Developmental and speech delay due to SRY-box 5 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706361019	Developmental and speech delay due to SOX5 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706362014	A rare genetic syndromic intellectual disability characterised by mild to severe global developmental delay, intellectual disability and behavioural abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706363016	A rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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