DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Musculoskeletal Abnormalities [C05.660] Musculoskeletal Abnormalities Craniofacial Abnormalities [C05.660.207] Craniofacial Abnormalities 22q11 Deletion Syndrome [C05.660.207.103] 22q11 Deletion Syndrome Cleidocranial Dysplasia [C05.660.207.207] Cleidocranial Dysplasia Costello Syndrome [C05.660.207.219] Costello Syndrome Craniofacial Dysostosis [C05.660.207.231] Craniofacial Dysostosis Craniosynostoses [C05.660.207.240] Craniosynostoses Donohue Syndrome [C05.660.207.325] Donohue Syndrome Holoprosencephaly [C05.660.207.410] Holoprosencephaly LEOPARD Syndrome [C05.660.207.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C05.660.207.532] Loeys-Dietz Syndrome Megalencephaly [C05.660.207.536] Megalencephaly Maxillofacial Abnormalities [C05.660.207.540] Maxillofacial Abnormalities Microcephaly [C05.660.207.620] Microcephaly Noonan Syndrome [C05.660.207.690] Noonan Syndrome Orofaciodigital Syndromes [C05.660.207.700] Orofaciodigital Syndromes Plagiocephaly [C05.660.207.707] Plagiocephaly Platybasia [C05.660.207.720] Platybasia Rubinstein-Taybi Syndrome [C05.660.207.850] Rubinstein-Taybi Syndrome Silver-Russell Syndrome [C05.660.207.925] Silver-Russell Syndrome DISEASES Nervous System Diseases [C10] Nervous System Diseases Nervous System Malformations [C10.500] Nervous System Malformations Agenesis of Corpus Callosum [C10.500.034] Agenesis of Corpus Callosum Acrocallosal Syndrome [C10.500.034.500] Acrocallosal Syndrome Aicardi Syndrome [C10.500.034.687] Aicardi Syndrome Holoprosencephaly [C10.500.034.875] Holoprosencephaly Septo-Optic Dysplasia [C10.500.034.937] Septo-Optic Dysplasia DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Chromosome Disorders [C16.131.260] Chromosome Disorders 22q11 Deletion Syndrome [C16.131.260.019] 22q11 Deletion Syndrome Angelman Syndrome [C16.131.260.040] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.131.260.080] Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome [C16.131.260.090] Branchio-Oto-Renal Syndrome Cri-du-Chat Syndrome [C16.131.260.190] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.260.210] De Lange Syndrome Down Syndrome [C16.131.260.260] Down Syndrome Holoprosencephaly [C16.131.260.380] Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome [C16.131.260.440] Jacobsen Distal 11q Deletion Syndrome Prader-Willi Syndrome [C16.131.260.700] Prader-Willi Syndrome Rubinstein-Taybi Syndrome [C16.131.260.790] Rubinstein-Taybi Syndrome Sex Chromosome Disorders [C16.131.260.830] Sex Chromosome Disorders Silver-Russell Syndrome [C16.131.260.870] Silver-Russell Syndrome Smith-Magenis Syndrome [C16.131.260.887] Smith-Magenis Syndrome Sotos Syndrome [C16.131.260.905] Sotos Syndrome Trisomy 13 Syndrome [C16.131.260.923] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.260.932] Trisomy 18 Syndrome WAGR Syndrome [C16.131.260.940] WAGR Syndrome Williams Syndrome [C16.131.260.970] Williams Syndrome Wolf-Hirschhorn Syndrome [C16.131.260.985] Wolf-Hirschhorn Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Musculoskeletal Abnormalities [C16.131.621] Musculoskeletal Abnormalities Craniofacial Abnormalities [C16.131.621.207] Craniofacial Abnormalities 22q11 Deletion Syndrome [C16.131.621.207.103] 22q11 Deletion Syndrome Cleidocranial Dysplasia [C16.131.621.207.207] Cleidocranial Dysplasia Craniofacial Dysostosis [C16.131.621.207.231] Craniofacial Dysostosis Craniosynostoses [C16.131.621.207.240] Craniosynostoses Holoprosencephaly [C16.131.621.207.410] Holoprosencephaly LEOPARD Syndrome [C16.131.621.207.525] LEOPARD Syndrome Megalencephaly [C16.131.621.207.532] Megalencephaly Maxillofacial Abnormalities [C16.131.621.207.540] Maxillofacial Abnormalities Microcephaly [C16.131.621.207.620] Microcephaly Noonan Syndrome [C16.131.621.207.690] Noonan Syndrome Orofaciodigital Syndromes [C16.131.621.207.700] Orofaciodigital Syndromes Plagiocephaly [C16.131.621.207.707] Plagiocephaly Platybasia [C16.131.621.207.720] Platybasia Rubinstein-Taybi Syndrome [C16.131.621.207.850] Rubinstein-Taybi Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Nervous System Malformations [C16.131.666] Nervous System Malformations Agenesis of Corpus Callosum [C16.131.666.034] Agenesis of Corpus Callosum Acrocallosal Syndrome [C16.131.666.034.500] Acrocallosal Syndrome Aicardi Syndrome [C16.131.666.034.687] Aicardi Syndrome Holoprosencephaly [C16.131.666.034.875] Holoprosencephaly Septo-Optic Dysplasia [C16.131.666.034.937] Septo-Optic Dysplasia DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Chromosome Disorders [C16.320.180] Chromosome Disorders 22q11 Deletion Syndrome [C16.320.180.019] 22q11 Deletion Syndrome Angelman Syndrome [C16.320.180.040] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.320.180.080] Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome [C16.320.180.090] Branchio-Oto-Renal Syndrome Cri-du-Chat Syndrome [C16.320.180.190] Cri-du-Chat Syndrome De Lange Syndrome [C16.320.180.210] De Lange Syndrome Down Syndrome [C16.320.180.260] Down Syndrome Holoprosencephaly [C16.320.180.380] Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome [C16.320.180.440] Jacobsen Distal 11q Deletion Syndrome Prader-Willi Syndrome [C16.320.180.700] Prader-Willi Syndrome Rubinstein-Taybi Syndrome [C16.320.180.790] Rubinstein-Taybi Syndrome Sex Chromosome Disorders [C16.320.180.830] Sex Chromosome Disorders Silver-Russell Syndrome [C16.320.180.870] Silver-Russell Syndrome Smith-Magenis Syndrome [C16.320.180.887] Smith-Magenis Syndrome Sotos Syndrome [C16.320.180.905] Sotos Syndrome Trisomy 13 Syndrome [C16.320.180.923] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.320.180.932] Trisomy 18 Syndrome WAGR Syndrome [C16.320.180.940] WAGR Syndrome Williams Syndrome [C16.320.180.970] Williams Syndrome Wolf-Hirschhorn Syndrome [C16.320.180.985] Wolf-Hirschhorn Syndrome

Holoprosencephaly - Preferred

Concept UI	M0024659
Scope note	Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
Preferred term	Holoprosencephaly
Entry term(s)	Holoprosencephalies

Semilobar Holoprosencephaly - Narrower

Concept UI	M0336862
Preferred term	Semilobar Holoprosencephaly
Entry term(s)	Holoprosencephalies, Semilobar Holoprosencephaly, Semilobar Semilobar Holoprosencephalies

Lobar Holoprosencephaly - Narrower

Concept UI	M0336861
Preferred term	Lobar Holoprosencephaly
Entry term(s)	Holoprosencephalies, Lobar Holoprosencephaly, Lobar Lobar Holoprosencephalies

Alobar Holoprosencephaly - Narrower

Concept UI	M0336860
Preferred term	Alobar Holoprosencephaly
Entry term(s)	Alobar Holoprosencephalies Holoprosencephalies, Alobar Holoprosencephaly, Alobar Holoprosencephaly, Familial Alobar

Arhinencephaly - Related but not broader or narrower

Concept UI	M0024658
Preferred term	Arhinencephaly
Entry term(s)	Arhinencephalies