1332382002: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness 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\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \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 (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \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 (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \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 (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Functional finding\Hearing finding (finding)\Decreased hearing (finding)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of pigmentation (disorder)\Albinism\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Albinism\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \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 (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \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 (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \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 (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Metabolic disease\Chronic metabolic disorder\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Metabolic disease\Metabolic bone disease\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Chronic disease\Chronic metabolic disorder\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Chronic disease\Chronic disease of skin\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Hypoplasia of the optic nerve\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Albinism\Oculocutaneous albinism\Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5353839011	COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5353840013	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5353841012	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5353842017	COMMAD syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5353843010	A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.	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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