1172629005: Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin deposits (disorder)\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Mass of body region (finding)\Mass of skin\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Mass of body structure\Mass of body region (finding)\Mass of skin\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin deposits (disorder)\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits (disorder)\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits (disorder)\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin deposits (disorder)\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Melanocytic neoplasm (disorder)\Melanocytic nevus (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Melanocytic neoplasm (disorder)\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Benign neoplastic disease\Melanocytic nevus (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of soft tissue\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits (disorder)\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Melanocytic tumor of skin\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin (disorder)\Melanocytic naevus of skin\Blue naevus of skin\Mongolian spot\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits (disorder)\Hyperpigmentation of skin\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634867015	Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634868013	Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399360010	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399361014	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-grey sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634867015	Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634868013	Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634871017	A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-grey sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634872012	A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399360010	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399361014	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-grey sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3423311001000111	Schwere Wachstumsstörung-Strabismus-extensive dermale Melanozytose-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3423311001000111	Schwere Wachstumsstörung-Strabismus-extensive dermale Melanozytose-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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