771472009: Developmental and speech delay due to SRY-box 5 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Functional finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Functional finding\Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \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 SOX5 (SRY-box 5) deficiency
• \Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Genetic disease\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Developmental disorder\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Developmental disorder\Developmental delay\Speech delay\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 (SRY-box 5) deficiency

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
3706359011	Developmental and speech delay due to SOX5 (SRY-box 5) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706360018	Developmental and speech delay due to SRY-box 5 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3706361019	Developmental and speech delay due to SOX5 deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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