699298009: Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Deformity\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Congenital anomaly of limb\Polymelia\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \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\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Finding of neck region\Finding of thyroid gland\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Finding of head and neck region\Finding of neck region\Disorder of neck\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Disorder of endocrine system\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of neck\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Congenital disease\Congenital hypothyroidism\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Developmental hereditary disorder\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Blepharophimosis-intellectual disability syndrome, SBBYS type

Status: current, Primitive. Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1720001000168117	Blepharophimosis-intellectual disability syndrome, SBBYS type	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
2983642016	Say-Barber-Biesecker-Young-Simpson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
2983655015	Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	en	Synonym	Active	Case sensitive	SNOMED CT core
2983711017	Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2983721013	Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
2983738012	Young-Simpson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3782735016	Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5066754016	Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5066755015	Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3782734017	Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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